A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125125



Internal ID21459051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32228599..32228599hg38UCSC Ensembl
chr5:32228705..32228705hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5641718
Supporting Variants
SamplesHG02818
Known GenesMTMR12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125125
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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